ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181924
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178253
ClinVar RCV Id:
RCV000154993
RCV000468325
RCV000727723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ile4692Val
CA181923
NM_133378.4:c.14074A>G